Raras
Buscar doenças, sintomas, genes...
Síndrome Bernard-Soulier
ORPHA:274CID-10 · D69.1CID-11 · 3B62.01OMIM 231200DOENÇA RARA

A Síndrome de Bernard Soulier (SBS) é uma doença hereditária que afeta as plaquetas, as células responsáveis pela coagulação do sangue. Ela se caracteriza por uma tendência a sangramentos que podem variar de leves a graves, pela presença de plaquetas maiores que o normal e em quantidade reduzida, e pela incapacidade dessas plaquetas de se agruparem em um teste laboratorial específico que utiliza uma substância chamada ristocetina.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome de Bernard Soulier (SBS) é uma doença hereditária que afeta as plaquetas, as células responsáveis pela coagulação do sangue. Ela se caracteriza por uma tendência a sangramentos que podem variar de leves a graves, pela presença de plaquetas maiores que o normal e em quantidade reduzida, e pela incapacidade dessas plaquetas de se agruparem em um teste laboratorial específico que utiliza uma substância chamada ristocetina.

Publicações científicas
688 artigos
Último publicado: 2026 Apr 13

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
100
pacientes catalogados
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D69.1
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
10 sintomas
🫃
Digestivo
2 sintomas
🫘
Rins
2 sintomas
🧠
Neurológico
1 sintomas
🫁
Pulmão
1 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

100%prev.
Macrotrombocitopenia
Obrigatório (100%)
100%prev.
Agregação plaquetária induzida por ristocetina prejudicada
Frequência: 11/11
100%prev.
Trombocitopenia
Obrigatório (100%)
100%prev.
HP:0003577
Obrigatório (100%)
90%prev.
Plaquetas gigantes
Muito frequente (99-80%)
90%prev.
Sangramento anormal
Muito frequente (99-80%)
34sintomas
Muito frequente (7)
Frequente (6)
Ocasional (6)
Muito raro (4)
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 34 características clínicas mais associadas, ordenadas por frequência.

MacrotrombocitopeniaMacrothrombocytopenia
Obrigatório (100%)100%
Agregação plaquetária induzida por ristocetina prejudicadaImpaired ristocetin-induced platelet aggregation
Frequência: 11/11100%
TrombocitopeniaThrombocytopenia
Obrigatório (100%)100%
HP:0003577
Obrigatório (100%)100%
Plaquetas gigantesGiant platelets
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico688PubMed
Últimos 10 anos180publicações
Pico202024 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

GP9Platelet glycoprotein IXDisease-causing germline mutation(s) inDesconhecido
FUNÇÃO

The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (7)
Intrinsic Pathway of Fibrin Clot FormationDefective F9 activationGP1b-IX-V activation signallingPlatelet Aggregation (Plug Formation)Platelet Adhesion to exposed collagen
MECANISMO DE DOENÇA

Bernard-Soulier syndrome

An autosomal recessive coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
21.5 TPM
Baço
12.6 TPM
Testículo
3.9 TPM
Pulmão
3.7 TPM
Fallopian Tube
0.4 TPM
OUTRAS DOENÇAS (1)
Bernard-Soulier syndrome
HGNC:4444UniProt:P14770
GP1BAPlatelet glycoprotein Ib alpha chainDisease-causing germline mutation(s) inModerado
FUNÇÃO

GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (7)
Intrinsic Pathway of Fibrin Clot FormationDefective F9 activationGP1b-IX-V activation signallingPlatelet Aggregation (Plug Formation)RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
MECANISMO DE DOENÇA

Non-arteritic anterior ischemic optic neuropathy

An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage.

EXPRESSÃO TECIDUAL(Baixa expressão)
Skin Sun Exposed Lower leg
4.2 TPM
Skin Not Sun Exposed Suprapubic
4.0 TPM
Baço
3.5 TPM
Sangue
2.9 TPM
Pulmão
2.6 TPM
OUTRAS DOENÇAS (6)
Bernard-Soulier syndrome, type A2, autosomal dominantBernard-Soulier syndromeplatelet-type von Willebrand diseaseautosomal dominant macrothrombocytopenia
HGNC:4439UniProt:P07359
GP1BBPlatelet glycoprotein Ib beta chainDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (7)
Intrinsic Pathway of Fibrin Clot FormationDefective F9 activationGP1b-IX-V activation signallingPlatelet Aggregation (Plug Formation)Platelet Adhesion to exposed collagen
MECANISMO DE DOENÇA

Bernard-Soulier syndrome

An autosomal recessive coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

OUTRAS DOENÇAS (4)
Bernard-Soulier syndromeautosomal dominant macrothrombocytopenia22q11.2 deletion syndromefetal and neonatal alloimmune thrombocytopenia
HGNC:4440UniProt:P13224

Variantes genéticas (ClinVar)

632 variantes patogênicas registradas no ClinVar.

🧬 GP1BB: GRCh38/hg38 22q11.21(chr22:18919477-21459713)x3 ()
🧬 GP1BB: GRCh38/hg38 22q11.21(chr22:18929330-20686544)x1 ()
🧬 GP1BB: GRCh38/hg38 22q11.21(chr22:19017218-21105423)x1 ()
🧬 GP1BB: GRCh38/hg38 22q11.21(chr22:18161474-21110475)x3 ()
🧬 GP1BB: GRCh38/hg38 22q11.21(chr22:18929330-21110475)x1 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 216 variantes classificadas pelo ClinVar.

173
43
Patogênica (80.1%)
VUS (19.9%)
VARIANTES MAIS SIGNIFICATIVAS
GP1BB: NC_000022.10:g.(?_19711061)_(19712295_?)del [Pathogenic]
GP9: NM_000174.5(GP9):c.112T>C (p.Cys38Arg) [Likely pathogenic]
GP9: NM_000174.5(GP9):c.285T>G (p.Tyr95Ter) [Likely pathogenic]
GP1BA: NM_000173.7(GP1BA):c.1562_1563del (p.Leu521fs) [Pathogenic]
GP1BA: NM_000173.7(GP1BA):c.1012dup (p.Met338fs) [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Bernard-Soulier

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
174 papers (10 anos)
#1

Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis2026 Feb 03

Constitutional thrombopathies, also known as inherited platelet disorders (IPDs), represent a complex and heterogeneous group of bleeding disorders. These conditions are still poorly documented in resource-limited settings, particularly in sub-Saharan Africa. This study was initiated with the primary objective of confirming suspected cases of IPD in Senegal. We conducted an observational study of all suspected cases of constitutional thrombopathy at the clinical hematology department in Dakar. Each patient provided written consent, and complete clinical files were obtained. We analyzed clinical parameters such as bleeding antecedent, history of care, first symptoms, bleeding profile, ISTH-SSC Bleeding Assessment Tool (BAT), and any complications related to the disorder.Biological assessments included platelet counts, blood smears, PT, aPTT, fibrinogen levels, coagulation factor assays, platelet aggregation testing using five agonists (collagen, ADP, AA, epinephrine, and ristocetin), and platelet immunophenotyping by flow cytometry (FC). We identified ten cases, of which seven were included in this study. All patients were from consanguineous marriages, and only two had no family history of bleeding. Clinical manifestations were predominantly mucosal hemorrhages. All patients had elevated ISTH-SSC BAT.Platelet aggregation and immunophenotyping confirmed a Bernard-Soulier syndrome profile in one patient and a Glanzmann thrombasthenia in four patients. The remaining two patients exhibited profiles suggestive of GPVI/α2β1 integrin and P2Y1/P2Y12 receptor deficiencies. This first study conducted locally in sub-Saharan Africa highlights the complexity of diagnosing inherited platelet disorders and the challenges of implementing light transmission aggregometry and platelet immunophenotyping in resource-limited countries.

#2

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Hematology reports2026 Feb 26

Inherited platelet disorders (IPDs) comprise a heterogeneous group of rare conditions that present particular challenges during pregnancy, with bleeding risk increasing during labor and the immediate postpartum period. These disorders require coordinated, multidisciplinary management to mitigate maternal and neonatal bleeding risk. Although data remains limited, individuals with IPD, including Bernard-Soulier syndrome, Glanzmann thrombasthenia, MYH9-related disorders, Hermansky-Pudlak syndrome, and platelet storage pool disorders, are at an increased risk for obstetrical bleeding, with the degree of risk varying by underlying diagnosis. In severe inherited platelet disorders such as Glanzmann thrombasthenia, peripartum hemorrhage is common, with up to half of the deliveries in some series requiring red cell or platelet transfusion. Because these conditions are congenital, the fetus may also be affected, placing neonates at risk for serious bleeding complications, including intracranial hemorrhage, although available data is limited. Despite the considerable morbidity and mortality risk associated with inherited platelet disorders, management strategies during pregnancy and delivery remain poorly defined. This stands in contrast to other bleeding disorders, such as factor deficiencies, for which multiple therapeutic approaches have been evaluated in the peripartum setting. In this review, we summarize the available evidence and current management strategies for individuals with inherited platelet disorders during pregnancy and delivery.

#3

Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report.

Cureus2026 Feb

Bernard Soulier syndrome (BSS) is a rare autosomal recessive disorder that presents with giant platelets, prolonged bleeding time, and mucocutaneous bleeding. As it is a rare disorder and shares overlapping clinical features with other bleeding disorders, it is often misdiagnosed as immune thrombocytopenia purpura (ITP), which can result in inappropriate and aggressive management. This report explores the case of a young female patient who presented with recurrent epistaxis and ecchymotic episodes since childhood. She was misdiagnosed and treated for ITP, and due to refractory symptoms, she underwent splenectomy and experienced temporary symptom improvement. However, the symptoms returned, and further workup with ristocetin and flow cytometry confirmed her diagnosis of BSS. This case underscores the importance of considering an alternative diagnosis for ITP, particularly when the presentation is atypical and the treatment response is also unusual. Additionally, it examines whether splenectomy is associated with better outcomes for these patients.

#4

Interlaboratory exercise on the use of immunofluorescence microscopy on the blood smear for recognizing inherited platelet disorders: communication from the ISTH SSC Subcommittee on Platelets in Health and Disease.

Journal of thrombosis and haemostasis : JTH2026 Mar 04

Immunofluorescence-based platelet phenotyping using peripheral blood smears has recently emerged as a promising method for characterizing a subgroup of inherited platelet disorders (IPD). A single-center study demonstrated its potential for accurate diagnosis of 9 disorders with characteristic platelet structural changes. The aim of this study was to evaluate the reproducibility of this approach through an interlaboratory validation study. Native, air-dried blood smears from healthy controls and patients with confirmed IPD were shipped to 7 participating laboratories, blinded for the sample origin. Samples were fixed and stained using a shared panel of 13 commercially available primary antibodies and 2 fluorescence-labelled secondary antibodies. Laboratories formulated diagnostic predictions based solely on immunofluorescence findings. The pre-workshop method establishment involved other samples and feedback with the coordinating laboratory to address technical issues before blinded sample validation. All 7 laboratories (Brisbane, Greifswald, Murcia, Paris, Pavia, Perugia, and Tübingen) correctly diagnosed MYH9-related disease, Bernard-Soulier syndrome, Glanzmann thrombasthenia, and GFI1B-related thrombocytopenia. Six of 7 laboratories accurately identified TUBB1-related disorder and quantitative δ-storage pool disorder, while 5 of 7 correctly diagnosed GATA1-related thrombocytopenia. Immunofluorescence-based platelet phenotyping on peripheral blood smears demonstrated high sensitivity for diagnosing MYH9-related disease, Bernard-Soulier syndrome, Glanzmann thrombasthenia, and GFI1B-related thrombocytopenia, and reasonable sensitivity for TUBB1-related disorder, quantitative δ-storage pool disorder, and GATA1-related thrombocytopenia. Immunofluorescence analysis of blood smears may be of help in the diagnostic work-up of IPD.

#5

Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion.

Annals of hematology2026 Feb 26

We report the case of a man in his 50’s diagnosed with Bernard-Soulier syndrome (BSS) in childhood who developed refractory gluteal bleeding following a fall accident. The patient underwent four hematoma evacuation procedures and multiple platelet transfusions, including HLA (human leukocyte antigen) -matched platelet concentrates, without achieving sustained hemostatic control. Given the lack of response to platelet transfusion and ongoing bleeding risk, Eptacog Alfa (recombinant activated factor VII; rFVIIa) was administered for 4 days, following the dosing regimen recommended for Glanzmann thrombasthenia in surgical bleeding settings. Hemostasis was achieved shortly after rFVIIa administration, and no further surgical evacuation was necessary. Importantly, no thromboembolic complications occurred despite the use of rFVIIa. This case demonstrates that rFVIIa can serve as an effective adjunctive hemostatic therapy in patients with BSS who are refractory to platelet transfusions. We reviewed the existing literature on rFVIIa use in patients with BSS and summarized the clinical contexts, dosing strategies, efficacy, and safety outcomes. Our experience suggests that early consideration of rFVIIa may help prevent repeated surgical interventions and reduce bleeding-related morbidity in complex cases.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC359 artigos no totalmostrando 179

2026

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Hematology reports
2026

Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report.

Cureus
2026

Interlaboratory exercise on the use of immunofluorescence microscopy on the blood smear for recognizing inherited platelet disorders: communication from the ISTH SSC Subcommittee on Platelets in Health and Disease.

Journal of thrombosis and haemostasis : JTH
2026

Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion.

Annals of hematology
2026

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.

International journal of laboratory hematology
2026

Successful Vaginal Delivery in a Pregnant Woman With Bernard-Soulier Syndrome: A Case Report.

Clinical case reports
2026

Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2026

Bernard-Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient.

Molecular genetics &amp; genomic medicine
2025

When it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders.

Hematology. American Society of Hematology. Education Program
2025

Recombinant Factor VIIa Prophylaxis in 2 Brothers with Bernard-Soulier Syndrome.

The American journal of case reports
2025

Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report.

International medical case reports journal
2025

Giant platelets and persistent bleeding: a pediatric case of Bernard-Soulier syndrome.

Annals of medicine and surgery (2012)
2025

Flow Cytometry Assessment of Platelet Phenotype, Function, and Cellular Interactions: Guidelines for Optimization and Assay Performance.

Clinics in laboratory medicine
2025

Anesthetic Management of a Patient With Bernard-Soulier Syndrome and Catamenial Hemothorax for Thoracotomy: A Case Report.

A&amp;A practice
2025

Natural history & quality of life in Glanzmann thrombasthenia & Bernard Soulier syndrome: An observational study from India.

The Indian journal of medical research
2025

Unclassified Versus Well-defined Platelet Function Disorders: A Multicenter Comparison of Bleeding Patterns and Treatment.

Journal of pediatric hematology/oncology
2025

From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis.

Thrombosis journal
2025

Transcriptome profiling of megakaryocytes and platelets: Application to GP9- and IKZF5-related thrombocytopenia.

HemaSphere
2025

Kupffer cells are essential for platelet-mediated thrombopoietin generation in the liver.

Proceedings of the National Academy of Sciences of the United States of America
2025

Murine hematopoietic progenitor cell lines with erythroid and megakaryocyte potential.

Nature communications
2025

Bernard-Soulier Syndrome: Case Studies From Morocco.

Cureus
2025

Automated Quantitative Immunofluorescence Microscopy Approach for Diagnosis of Hereditary Thrombopathies: A Proof of Concept Using Bernard-Soulier Syndrome and Glanzmann Thrombasthenia.

Genes
2025

How Trustworthy is Light Transmittance Platelet Aggregometry With Low Platelet Count Samples? Insights From Test Replicates and Retrospective Analysis of Several Decades of Diagnostic Samples.

International journal of laboratory hematology
2025

Acquired Bernard-Soulier syndrome as the presenting feature of GATA2-related myeloid neoplasm in an adolescent: an insight into the mechanisms underlying the platelet defect.

Haematologica
2025

Anesthesia Management Using Remimazolam in A Patient With Bernard-Soulier Syndrome: A Case Report.

Clinical case reports
2025

Acquired Bernard-Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab.

Research and practice in thrombosis and haemostasis
2025

Unraveling Hematological Anomalies in DiGeorge Syndrome: A Retrospective Study of Thrombocytopenia and Mean Platelet Volume.

Cureus
2025

Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome.

Haematologica
2025

The Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet Disorders.

Hamostaseologie
2024

A Novel Variant of GP9 Gene Resulting in Bernard-Soulier Syndrome: A Case Report.

Cureus
2024

Persistent Menorrhagia and Hemorrhagic Ovarian Cyst in a Patient With Bernard-Soulier Syndrome: A Case Report.

Cureus
2025

Like Father, Like Daughter: A Family With a Constitutional Thrombocytopenia Variant Due to a Novel Heterozygous Missense Mutation in GP1BA.

Journal of pediatric hematology/oncology
2025

Roles of ROCK/Myosin Pathway in Macrothrombocytopenia in Bernard-Soulier Syndrome.

Thrombosis and haemostasis
2025

Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.

Seminars in thrombosis and hemostasis
2024

Novel GPIb-independent platelet aggregation induced by botrocetin: implications for diagnosis and antithrombotic therapy.

Journal of thrombosis and haemostasis : JTH
2024

The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB.

British journal of haematology
2024

Should HLA and HPA-matched platelet transfusions for patients with Glanzmann Thrombasthenia or Bernard-Soulier syndrome be standardized care? A Dutch survey and recommendations.

Transfusion
2024

Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.

International journal of hematology
2024

Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.

Hematology (Amsterdam, Netherlands)
2024

Frequency, clinical, and laboratory findings of platelet secretion disorders in patients referred to the specialized coagulation laboratory of the Iranian Blood Transfusion Organization.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2024

Perioperative Management of a Frail Patient With Bernard-Soulier Syndrome.

Cureus
2024

Blood donor biobank as a resource in personalised biomedical genetic research.

European journal of human genetics : EJHG
2024

Evaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts.

International journal of laboratory hematology
2023

Pregnancy Outcome in Bernard-Soulier Syndrome.

Journal of obstetrics and gynaecology of India
2023

Successful pregnancy and delivery management in a patient with Bernard Soulier Syndrome.

Obstetric medicine
2023

Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age.

Journal of clinical medicine
2024

Flow cytometry immunophenotyping of healthy platelets and hospitalized patients with suspected platelet dysfunction: Challenges for establishing a cutoff value.

Hematology, transfusion and cell therapy
2023

Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C.

Molecular therapy. Nucleic acids
2023

A cohort study and matched pair analysis evaluating the effects of the COVID-19 pandemic on access to dental care for people with inherited bleeding disorders.

Haemophilia : the official journal of the World Federation of Hemophilia
2023

Bernard Soulier syndrome: A case report from Pakistan.

Clinical case reports
2023

Point-of-care platelet function testing results in a dog with Bernard-Soulier syndrome.

Veterinary clinical pathology
2023

Experience of kidney transplantation to a patient with Bernard Soulier syndrome: A case report.

Turkish journal of surgery
2023

Clinical Dilemma, Bernard Soulier Syndrome versus Immune Thrombocytopenic Purpura: A Case Report.

Cardiovascular &amp; hematological disorders drug targets
2023

Bernard-Soulier Syndrome from the Perspective of the Obstetrician: A Case Report with a Review of the Literature.

Zeitschrift fur Geburtshilfe und Neonatologie
2023

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

Annals of hematology
2023

Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up.

American journal of obstetrics &amp; gynecology MFM
2023

Perioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery.

Journal of cardiothoracic and vascular anesthesia
2022

Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.

British journal of haematology
2022

Bernard-Soulier syndrome in pregnancy with retinal detachment: a rare phenomenon.

BMJ case reports
2023

Detection of alloimmunization in Glanzmann Thrombasthenia and Bernard-Soulier Syndrome: Data from a Brazilian Center.

Hematology, transfusion and cell therapy
2022

S100A8/A9 drives the formation of procoagulant platelets through GPIbα.

Blood
2022

Successful management of a retrosternal goiter in a patient with Bernard-Soulier syndrome.

Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgery
2022

Characterization of zebrafish gp1ba mutant and modelling Bernard Soulier syndrome.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2022

Diagnostic workup of inherited platelet disorders.

Blood research
2022

Murine models of glycoprotein Ib-IX.

Platelets
2022

Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.

Haemophilia : the official journal of the World Federation of Hemophilia
2022

The GPIb-IX complex on platelets: insight into its novel physiological functions affecting immune surveillance, hepatic thrombopoietin generation, platelet clearance and its relevance for cancer development and metastasis.

Experimental hematology &amp; oncology
2022

Stability and utility of flow cytometric platelet activation tests: A modality to bridge the gap between diagnostic demand and supply.

Platelets
2022

Elevated CD9 expression as a potential biomarker for diagnosis of Bernard-Soulier syndrome.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2022

Perforated hemorrhagic cholecystitis in a patient with Bernard-Soulier syndrome.

Clinical journal of gastroenterology
2022

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

International journal of molecular sciences
2022

Invasive procedures in the oral cavity of individuals with Bernard-Soulier syndrome: An integrative review.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2022

Acquired Bernard-Soulier syndrome and hypodysfibrinogenaemia because of multiple myeloma.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2021

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.

International journal of molecular sciences
2022

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.

Human molecular genetics
2021

Platelet features allow to differentiate immune thrombocytopenia from inherited thrombocytopenia.

Annals of hematology
2022

Establishment of a Bernard-Soulier syndrome model in zebrafish.

Haematologica
2021

Bernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder.

BMJ case reports
2021

The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.

Journal of thrombosis and haemostasis : JTH
2021

Anemia-Induced Bleeding in Patients with Platelet Disorders.

Transfusion medicine reviews
2021

Recurrent melena in a diagnosed case of Bernard Soulier syndrome.

Journal of community hospital internal medicine perspectives
2021

Diagnostic Challenges in Children With Congenital Bleeding Disorders: A Developing Country Perspective.

American journal of clinical pathology
2021

GPIbα is the driving force of hepatic thrombopoietin generation.

Research and practice in thrombosis and haemostasis
2022

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.

Platelets
2021

A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.

Experimental and therapeutic medicine
2021

A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2021

Successful management of severe gastrointestinal bleeding from jejunal angiodysplasia in a patient with Bernard-Soulier syndrome.

BMJ case reports
2020

Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.

Frontiers in pediatrics
2020

Utility of the Platelet Function Analyzer in Patients with Suspected Platelet Function Disorders: Diagnostic Accuracy Study.

TH open : companion journal to thrombosis and haemostasis
2020

A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies.

Cureus
2021

Regulation of platelet numbers and sizes by signaling pathways.

Platelets
2020

Whole exome sequencing for diagnosis of hereditary thrombocytopenia.

Medicine
2020

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

British journal of haematology
2020

Bernard-Soulier syndrome (BSS) with uncontrollable menorrhagia.

Asian journal of transfusion science
2020

Why thromboembolism occurs in some patients with thrombocytopenia and treatment strategies.

Thrombosis research
2021

Peripheral blood morphology review and diagnostic proficiency evaluation by a new Spanish EQAS during the period 2011-2019.

International journal of laboratory hematology
2021

Ferric carboxymaltose for sub-acute and chronic iron deficiency anemia in inherited platelet function defects.

Internal and emergency medicine
2020

Glycophorin A-based exclusion of red blood cells for flow cytometric analysis of platelet glycoprotein expression in citrated whole blood.

Clinical chemistry and laboratory medicine
2020

Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects.

American journal of hematology
2020

Inherited thrombocytopenias: history, advances and perspectives.

Haematologica
2020

Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints.

Cytometry. Part B, Clinical cytometry
2020

Inherited Bleeding Disorders in North Indian Children: 14 years' Experience from a Tertiary Care Center.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2020

"ITP" is not always immune thrombocytopenia.

American journal of hematology
2020

Multivessel Percutaneous Coronary Intervention in a Patient With Bernard-Soulier Syndrome.

JACC. Case reports
2020

Bernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series.

Caspian journal of internal medicine
2020

Bernard-Soulier syndrome: first human case due to a homozygous deletion of GP9 gene.

British journal of haematology
2020

Menstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review.

Haemophilia : the official journal of the World Federation of Hemophilia
2020

High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.

British journal of haematology
2019

Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.

Science translational medicine
2019

Excessive wrinkling of the palms after brief water immersion.

JAAD case reports
2020

A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2020

Unaccompanied mechanosensory domain mediates low expression of glycoprotein Ibα: implications for Bernard-Soulier syndrome.

Journal of thrombosis and haemostasis : JTH
2019

Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2019

Nontraumatic Orbital Subperiosteal Hematoma in a Case of Bernard-Soulier Syndrome With Bilateral Pansinusitis.

Ophthalmic plastic and reconstructive surgery
2019

A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.

PloS one
2020

Genetic classification and confirmation of inherited platelet disorders: current status in Korea.

Clinical and experimental pediatrics
2020

The use of prophylaxis in the treatment of rare bleeding disorders.

Thrombosis research
2019

Study of Bernard-Soulier Syndrome Megakaryocytes and Platelets Using Patient-Derived Induced Pluripotent Stem Cells.

Thrombosis and haemostasis
2020

A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.

Acta haematologica
2019

Management of haemostasis during dental extraction in a Bernard-Soulier syndrome child.

BMJ case reports
2020

Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial.

Haematologica
2019

Bernard Soulier Syndrome: 10 years' experience at a tertiary care hospital.

Pakistan journal of medical sciences
2019

A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.

British journal of haematology
2019

Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.

Journal of thrombosis and haemostasis : JTH
2018

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.

Platelets
2018

How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults.

British journal of haematology
2018

Inherited Bleeding Disorders in the Obstetric Patient.

Transfusion medicine reviews
2018

Inherited platelet disorders : Management of the bleeding risk.

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine
2018

Inherited platelet functional disorders: General principles and practical aspects of management.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2018

Platelet function tests: A 5-year audit of platelet function tests done for bleeding disorders in a tertiary care center of a developing country.

Indian journal of pathology &amp; microbiology
2018

Thrombopoietin receptor agonists in hereditary thrombocytopenias.

Journal of thrombosis and haemostasis : JTH
2018

Spontaneous breast haematoma in a woman with Bernard-Soulier giant platelet disorder.

Pathology
2018

Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard-Soulier's Syndrome.

Seminars in thrombosis and hemostasis
2018

GPIbα is required for platelet-mediated hepatic thrombopoietin generation.

Blood
2018

A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.

Clinical case reports
2019

New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.

British journal of haematology
2018

Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.

Platelets
2018

Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

Platelets
2018

Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA.

Haemophilia : the official journal of the World Federation of Hemophilia
2018

Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?

Platelets
2018

A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.

British journal of haematology
2017

Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency.

Blood research
2017

A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations.

Human genome variation
2017

Haemostatic Disorder in Women with Unexplained Menorrhagia: A Tertiary Care Centre Experience from Northern India.

Journal of clinical and diagnostic research : JCDR
2018

Does Bernard-Soulier syndrome protect against thrombotic thrombocytopenic purpura?

Journal of clinical apheresis
2017

A Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis.

Nature communications
2017

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.

Journal of thrombosis and haemostasis : JTH
2017

Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.

Stem cell research
2017

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.

Orphanet journal of rare diseases
2017

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders.

Haematologica
2017

Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.

Blood cells, molecules &amp; diseases
2016

Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.

Stem cell research
2016

Corrigendum to "Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene" [Stem Cell Res. 16/3 (2016) 692-695].

Stem cell research
2016

The contribution of mouse models to the understanding of constitutional thrombocytopenia.

Haematologica
2016

Evaluation of the Hemostatic Disorders in Adolescent Girls with Menorrhagia: Experiences from a Tertiary Referral Hospital.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2016

Genomic approaches to bleeding disorders.

Haemophilia : the official journal of the World Federation of Hemophilia
2016

Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene.

Stem cell research
2016

Grey platelet syndrome misdiagnosed as ITP.

British journal of haematology
2016

Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.

Journal of thrombosis and haemostasis : JTH
2016

The utility of International Society on Thrombosis and Haemostasis-Bleeding Assessment Tool and other bleeding questionnaires in assessing the bleeding phenotype in two platelet function defects.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2016

Utilization of paravertebral nerve blocks as part of a multimodal analgesic regimen in a patient with Bernard-Soulier syndrome undergoing a Nuss procedure.

Romanian journal of anaesthesia and intensive care
2016

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.

Thrombosis and haemostasis
2017

A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2014

Bernard-Soulier Syndrome (BSS) & tuberculosis: A case report.

International journal of mycobacteriology
2015

[Bernard-Soulier syndrome and pregnancy: a case report].

Annales de biologie clinique
2015

Bernard-Soulier syndrome: A challenge for anesthetist in an emergency surgery.

Journal of anaesthesiology, clinical pharmacology
2015

Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.

Annals of hematology
2015

Dental Extractions Management in Bernard-Soulier Syndrome.

The Journal of craniofacial surgery
2015

A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis.

Haemophilia : the official journal of the World Federation of Hemophilia
2015

Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation.

Journal of hematology &amp; oncology
2015

Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.

Journal of pediatric hematology/oncology
2015

A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.

Acta haematologica
2015

Primigravida with Bernard-Soulier Syndrome: a case report.

BMC research notes
2015

Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias.

Haematologica
2016

Investigation of platelet function and platelet disorders using flow cytometry.

Platelets
2015

Large-scale identification of potential drug targets based on the topological features of human protein-protein interaction network.

Analytica chimica acta
2016

Inherited platelet disorders.

Hamostaseologie
2015

Roll, adhere, spread and contract: structural mechanics of platelet function.

European journal of cell biology
2015

Inherited thrombocytopenias in the era of personalized medicine.

Haematologica
Ver todos os 359 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome Bernard-Soulier.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome Bernard-Soulier

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.
    Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis· 2026· PMID 41630424mais citado
  2. Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
    Hematology reports· 2026· PMID 41874099mais citado
  3. Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report.
    Cureus· 2026· PMID 41853404mais citado
  4. Interlaboratory exercise on the use of immunofluorescence microscopy on the blood smear for recognizing inherited platelet disorders: communication from the ISTH SSC Subcommittee on Platelets in Health and Disease.
    Journal of thrombosis and haemostasis : JTH· 2026· PMID 41791656mais citado
  5. Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion.
    Annals of hematology· 2026· PMID 41746364mais citado
  6. Investigator-Led Research to Improve the Diagnostic Assessment of Platelet Function Disorders: Reflections on the Challenges and Rewards.
    Int J Lab Hematol· 2026· PMID 41968845recente
  7. Congenital thrombopathies in southern Tunisia : A multicenter study.
    Tunis Med· 2025· PMID 41949971recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:274(Orphanet)
  2. OMIM OMIM:231200(OMIM)
  3. MONDO:0009276(MONDO)
  4. GARD:2470(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q822228(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Bernard-Soulier
Compêndio · Raras BR

Síndrome Bernard-Soulier

ORPHA:274 · MONDO:0009276
Prevalência
<1 / 1 000 000
Casos
100 casos conhecidos
Herança
Autosomal dominant, Autosomal recessive
CID-10
D69.1 · Defeitos qualitativos das plaquetas
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0005129
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades